Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02343:Bglap3'

289201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bglap3

Ensembl Gene

ENSMUSG00000074489

Gene Name

bone gamma-carboxyglutamate protein 3

Synonyms

Bglap-rs1, ORG, mOC-X

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02343

Quality Score

Status

Chromosome

Chromosomal Location

88275923-88280048 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88276423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 45 (N45S)

Ref Sequence

ENSEMBL: ENSMUSP00000103167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075523] [ENSMUST00000107542] [ENSMUST00000107543] [ENSMUST00000147948] [ENSMUST00000147991]

AlphaFold

P54615

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075523
AA Change: N45S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074965
Gene: ENSMUSG00000074489
AA Change: N45S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.9e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107542
AA Change: N45S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103166
Gene: ENSMUSG00000074489
AA Change: N45S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.9e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107543
AA Change: N45S

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103167
Gene: ENSMUSG00000074489
AA Change: N45S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
GLA	31	91	5.9e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147818

Predicted Effect

probably benign
Transcript: ENSMUST00000147948

SMART Domains

Protein: ENSMUSP00000119656
Gene: ENSMUSG00000041423

Domain	Start	End	E-Value	Type
Pfam:HlyIII	59	161	6.8e-18	PFAM
transmembrane domain	180	202	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152477

Predicted Effect

probably benign
Transcript: ENSMUST00000147991

SMART Domains

Protein: ENSMUSP00000114166
Gene: ENSMUSG00000041423

Domain	Start	End	E-Value	Type
Pfam:HlyIII	43	271	5.5e-51	PFAM
transmembrane domain	292	314	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	T	A	2: 22,977,507 (GRCm39)	N168K	possibly damaging	Het
Aig1	T	C	10: 13,744,418 (GRCm39)	M29V	probably damaging	Het
Albfm1	C	A	5: 90,727,473 (GRCm39)	H364N	probably damaging	Het
Apba2	A	G	7: 64,344,894 (GRCm39)	E28G	probably damaging	Het
Cables2	A	G	2: 179,902,072 (GRCm39)		probably null	Het
Cd109	A	G	9: 78,596,237 (GRCm39)		probably benign	Het
Cdk1	T	C	10: 69,176,331 (GRCm39)	N259D	probably benign	Het
Ces1h	A	G	8: 94,078,654 (GRCm39)	*563R	probably null	Het
Cfap46	C	T	7: 139,262,425 (GRCm39)	A115T	probably damaging	Het
Cry2	A	T	2: 92,257,266 (GRCm39)	V101E	possibly damaging	Het
Cyp4a31	A	G	4: 115,421,026 (GRCm39)	Y38C	probably damaging	Het
Dip2a	T	C	10: 76,155,312 (GRCm39)	Y130C	probably benign	Het
Eps8l1	A	G	7: 4,475,123 (GRCm39)	T366A	probably benign	Het
Esr2	C	T	12: 76,192,119 (GRCm39)	R303H	probably benign	Het
Fbxo41	T	G	6: 85,455,153 (GRCm39)	L617F	possibly damaging	Het
Fbxw15	A	T	9: 109,381,723 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 103,070,024 (GRCm39)		probably benign	Het
Me1	A	T	9: 86,536,694 (GRCm39)		probably null	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Muc19	T	G	15: 91,778,428 (GRCm39)		noncoding transcript	Het
Myo15b	A	G	11: 115,764,226 (GRCm39)		probably benign	Het
Nav1	A	T	1: 135,382,490 (GRCm39)	L1264*	probably null	Het
Nhlrc4	T	C	17: 26,162,335 (GRCm39)	*137W	probably null	Het
Nrxn3	A	G	12: 88,762,123 (GRCm39)	T57A	probably damaging	Het
Or10g3	T	A	14: 52,609,934 (GRCm39)	D192V	probably damaging	Het
Orc2	A	T	1: 58,508,825 (GRCm39)		probably null	Het
Rpap2	G	A	5: 107,766,047 (GRCm39)		probably null	Het
S100a9	T	C	3: 90,602,531 (GRCm39)	H21R	probably damaging	Het
Spz1	T	A	13: 92,712,054 (GRCm39)	M141L	probably benign	Het
Stk40	A	G	4: 126,030,695 (GRCm39)	Y305C	probably damaging	Het
Stra6l	A	G	4: 45,869,588 (GRCm39)	Q218R	probably damaging	Het
T	C	A	17: 8,658,732 (GRCm39)		probably benign	Het
Tep1	T	C	14: 51,066,704 (GRCm39)	D2298G	probably damaging	Het
Trim40	A	T	17: 37,200,030 (GRCm39)	L16Q	probably benign	Het
Tubb4a	T	C	17: 57,388,538 (GRCm39)	I163V	probably benign	Het
Vwc2	T	A	11: 11,066,532 (GRCm39)	C207S	probably damaging	Het
Zfp407	A	G	18: 84,227,849 (GRCm39)	I1920T	possibly damaging	Het
Zfp429	T	C	13: 67,538,844 (GRCm39)	E200G	probably damaging	Het
Zfp451	C	T	1: 33,815,574 (GRCm39)	C792Y	probably damaging	Het

Other mutations in Bglap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02984:Bglap3	UTSW	3	88,276,098 (GRCm39)	missense	possibly damaging	0.66
R0496:Bglap3	UTSW	3	88,276,444 (GRCm39)	missense	probably damaging	0.98
R1435:Bglap3	UTSW	3	88,276,453 (GRCm39)	missense	possibly damaging	0.70
R1903:Bglap3	UTSW	3	88,276,068 (GRCm39)	missense	probably benign	0.01
R1970:Bglap3	UTSW	3	88,284,300 (GRCm39)	unclassified	probably benign
R2296:Bglap3	UTSW	3	88,276,819 (GRCm39)	unclassified	probably benign
R2326:Bglap3	UTSW	3	88,276,819 (GRCm39)	unclassified	probably benign
R2917:Bglap3	UTSW	3	88,276,819 (GRCm39)	unclassified	probably benign
R4967:Bglap3	UTSW	3	88,283,671 (GRCm39)	unclassified	probably benign
R5941:Bglap3	UTSW	3	88,283,653 (GRCm39)	unclassified	probably benign
R6259:Bglap3	UTSW	3	88,276,067 (GRCm39)	missense	probably damaging	0.99
R9537:Bglap3	UTSW	3	88,276,139 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16